LOCUS       NM_001971                953 bp    mRNA    linear   PRI 10-FEB-2024
DEFINITION  Homo sapiens chymotrypsin like elastase 1 (CELA1), mRNA.
ACCESSION   NM_001971
VERSION     NM_001971.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 953)
  AUTHORS   Nanno,Y., Toyama,H., Zen,Y., Akita,M., Ando,Y., Mizumoto,T.,
            Ueda,Y., Ajiki,T., Okano,K., Suzuki,Y. and Fukumoto,T.
  TITLE     Serum Elastase 1 Level as a Risk Factor for Postoperative
            Recurrence in Patients with Well-Differentiated Pancreatic
            Neuroendocrine Neoplasms
  JOURNAL   Ann Surg Oncol 25 (11), 3358-3364 (2018)
   PUBMED   30054822
  REMARK    GeneRIF: High Serum Elastase 1 Level is associated with
            Postoperative Recurrence in Patients with Well-Differentiated
            Pancreatic Neuroendocrine Neoplasms.
REFERENCE   2  (bases 1 to 953)
  AUTHORS   Witvliet-van Nierop,J.E., Wierdsma,N.J., Ottens-Oussoren,K.,
            Meijerink,M.R., Bouma,G., Kazemier,G. and de van der
            Schueren,M.A.E.
  TITLE     Fecal Elastase Fails to Detect Steatorrhea in Patients With Locally
            Advanced Pancreatic Cancer
  JOURNAL   Pancreas 47 (4), e15-e16 (2018)
   PUBMED   29521945
  REMARK    GeneRIF: Results show that fecal elastase 1 (FE1) fails to detect
            steatorrhea in patients with locally advanced pancreatic cancer
            (LAPC) and is an inappropriate marker of exocrine pancreatic
            insufficiency in daily clinical practice.
REFERENCE   3  (bases 1 to 953)
  AUTHORS   Jia,Y., Wang,S., Zhu,Y. and Luo,D.
  TITLE     [Molecular genetic study of a family affected with punctate
            palmoplantar keratoderma]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 34 (3), 369-372 (2017)
   PUBMED   28604957
  REMARK    GeneRIF: A heterozygous frameshift variant c.419delC in exons of
            the CELA1 gene identified in all punctate palmoplantar keratoderma
            patients.
REFERENCE   4  (bases 1 to 953)
  AUTHORS   Rathmann,W., Haastert,B., Oscarsson,J., Berglind,N. and
            Wareham,N.J.
  TITLE     Inverse association of HbA1c with faecal elastase 1 in people
            without diabetes
  JOURNAL   Pancreatology 15 (6), 620-625 (2015)
   PUBMED   26601880
  REMARK    GeneRIF: Inverse association of HbA1c with faecal elastase 1 in
            people without diabetes suggests that pancreatic exocrine
            dysfunction might be an early disturbance that develops in parallel
            with hyperglycemia.
REFERENCE   5  (bases 1 to 953)
  AUTHORS   Kim,S.Y., Go,K.C., Song,Y.S., Jeong,Y.S., Kim,E.J. and Kim,B.J.
  TITLE     Extract of the mycelium of T. matsutake inhibits elastase activity
            and TPA-induced MMP-1 expression in human fibroblasts
  JOURNAL   Int J Mol Med 34 (6), 1613-1621 (2014)
   PUBMED   25319362
  REMARK    GeneRIF: Results indicate that the extract of the mycelium of
            Tricholoma matsutake decreased elastase activity in a
            dose-dependent manner and reduced the levels of matrix
            metalloproteinase 1 (MMP-1).
REFERENCE   6  (bases 1 to 953)
  AUTHORS   Rose,S.D. and MacDonald,R.J.
  TITLE     Evolutionary silencing of the human elastase I gene (ELA1)
  JOURNAL   Hum Mol Genet 6 (6), 897-903 (1997)
   PUBMED   9175736
REFERENCE   7  (bases 1 to 953)
  AUTHORS   Davies,R.L., Yoon,S.J., Weissenbach,J., Ward,D., Krauter,K. and
            Kucherlapati,R.
  TITLE     Physical mapping of the human ELA1 gene between D12S361 and D12S347
            on chromosome 12q13
  JOURNAL   Genomics 29 (3), 766-768 (1995)
   PUBMED   8575772
REFERENCE   8  (bases 1 to 953)
  AUTHORS   Kawashima,I., Tani,T., Mita-Honjo,K., Shimoda-Takano,K., Ohmine,T.,
            Furukawa,H. and Takiguchi,Y.
  TITLE     Genomic organization of the human homologue of the rat pancreatic
            elastase I gene
  JOURNAL   DNA Seq 2 (5), 303-312 (1992)
   PUBMED   1633328
REFERENCE   9  (bases 1 to 953)
  AUTHORS   Tani,T., Kawashima,I., Furukawa,H., Ohmine,T. and Takiguchi,Y.
  TITLE     Characterization of a silent gene for human pancreatic elastase I:
            structure of the 5'-flanking region
  JOURNAL   J Biochem 101 (3), 591-599 (1987)
   PUBMED   3648024
REFERENCE   10 (bases 1 to 953)
  AUTHORS   Honey,N.K., Sakaguchi,A.Y., Quinto,C., MacDonald,R.J., Bell,G.I.,
            Craik,C., Rutter,W.J. and Naylor,S.L.
  TITLE     Chromosomal assignments of human genes for serine proteases
            trypsin, chymotrypsin B, and elastase
  JOURNAL   Somat Cell Mol Genet 10 (4), 369-376 (1984)
   PUBMED   6589790
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC069454.1, AC046135.15 and
            AF120493.1.
            
            On May 17, 2019 this sequence version replaced NM_001971.5.
            
            Summary: Elastases form a subfamily of serine proteases that
            hydrolyze many proteins in addition to elastin. Humans have six
            elastase genes which encode the structurally similar proteins
            elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases,
            pancreatic elastase 1 is not expressed in the pancreas. To date,
            elastase 1 expression has only been detected in skin keratinocytes.
            Clinical literature that describes human elastase 1 activity in the
            pancreas or fecal material is actually referring to
            chymotrypsin-like elastase family, member 3B. [provided by RefSeq,
            May 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF120493.1, BC069454.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2153347
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293636.2/ ENSP00000293636.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-867               BC069454.1         1-867
            868-868             AC046135.15        84577-84577         c
            869-952             AF120493.1         869-952
            953-953             AC046135.15        84492-84492         c
FEATURES             Location/Qualifiers
     source          1..953
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..953
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /note="chymotrypsin like elastase 1"
                     /db_xref="GeneID:1990"
                     /db_xref="HGNC:HGNC:3308"
                     /db_xref="MIM:130120"
     exon            1..57
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..818
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /EC_number="3.4.21.36"
                     /note="elastase 1, pancreatic; elastase-1; pancreatic
                     elastase 1; chymotrypsin like elastase family member 1"
                     /codon_start=1
                     /product="chymotrypsin-like elastase family member 1"
                     /protein_id="NP_001962.3"
                     /db_xref="CCDS:CCDS8812.1"
                     /db_xref="GeneID:1990"
                     /db_xref="HGNC:HGNC:3308"
                     /db_xref="MIM:130120"
                     /translation="MLVLYGHSTQDLPETNARVVGGTEAGRNSWPSQISLQYRSGGSR
                     YHTCGGTLIRQNWVMTAAHCVDYQKTFRVVAGDHNLSQNDGTEQYVSVQKIVVHPYWN
                     SDNVAAGYDIALLRLAQSVTLNSYVQLGVLPQEGAILANNSPCYITGWGKTKTNGQLA
                     QTLQQAYLPSVDYAICSSSSYWGSTVKNTMVCAGGDGVRSGCQGDSGGPLHCLVNGKY
                     SVHGVTSFVSSRGCNVSRKPTVFTQVSAYISWINNVIASN"
     exon            58..140
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /inference="alignment:Splign:2.1.0"
     exon            141..241
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /inference="alignment:Splign:2.1.0"
     exon            242..367
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /inference="alignment:Splign:2.1.0"
     exon            368..504
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /inference="alignment:Splign:2.1.0"
     exon            505..650
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /inference="alignment:Splign:2.1.0"
     exon            651..800
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /inference="alignment:Splign:2.1.0"
     exon            801..953
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      933..938
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /note="hexamer: AATAAA"
     polyA_site      953
                     /gene="CELA1"
                     /gene_synonym="ELA1"
                     /note="major polyA site"
ORIGIN      
        1 ttggtccaag caagaaggca gtggtctact ccatcggcaa catgctggtc ctttatggac
       61 acagcaccca ggaccttccg gaaaccaatg cccgcgtagt cggagggact gaggccggga
      121 ggaattcctg gccctctcag atttccctcc agtaccggtc tggaggttcc cggtatcaca
      181 cctgtggagg gacccttatc agacagaact gggtgatgac agctgctcac tgcgtggatt
      241 accagaagac tttccgcgtg gtggctggag accataacct gagccagaat gatggcactg
      301 agcagtacgt gagtgtgcag aagatcgtgg tgcatccata ctggaacagc gataacgtgg
      361 ctgccggcta tgacatcgcc ctgctgcgcc tggcccagag cgttaccctc aatagctatg
      421 tccagctggg tgttctgccc caggagggag ccatcctggc taacaacagt ccctgctaca
      481 tcacaggctg gggcaagacc aagaccaatg ggcagctggc ccagaccctg cagcaggctt
      541 acctgccctc tgtggactac gccatctgct ccagctcctc ctactggggc tccactgtga
      601 agaacaccat ggtgtgtgct ggtggagatg gagttcgctc tggatgccag ggtgactctg
      661 ggggccccct ccattgcttg gtgaatggca agtattctgt ccatggagtg accagctttg
      721 tgtccagccg gggctgtaat gtctccagga agcctacagt cttcacccag gtctctgctt
      781 acatctcctg gataaataat gtcatcgcct ccaactgaac attttcctga gtccaacgac
      841 cttcccaaaa tggttcttag atctgcagta ggacttgcga tcaaaaagta aaacacattc
      901 tgaaagacta ttgagccatt gatagaaaag caaataaaac tagatataca tta
//
